HGVS | Genome Assembly |
---|---|
NC_000011.10:g.121137479T>C , CM000673.2:g.121137479T>C | GRCh38 |
NC_000011.9:g.121008188T>C , CM000673.1:g.121008188T>C | GRCh37 |
NC_000011.8:g.120513398T>C | NCBI36 |
NG_011633.1:g.39814T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392793.6:c.3000T>C (TECTA) MANE Select | ENSP00000376543.1:p.Cys1000= | |
ENST00000642222.1:c.3000T>C (TECTA) | ENSP00000493855.1:p.Cys1000= | |
ENST00000645008.1:c.307T>C (TECTA) | ||
ENST00000264037.2:c.3000T>C (TECTA) | ENSP00000264037.2:p.Cys1000= | |
ENST00000392793.5:c.3000T>C (TECTA) | ENSP00000376543.1:p.Cys1000= | |
NM_005422.2:c.3000T>C (TECTA) | NP_005413.2:p.Cys1000= | |
NM_001378761.1:c.3957T>C (TBCEL-TECTA) | NP_001365690.1:p.Cys1319= | |
NM_005422.4:c.3000T>C (TECTA) MANE Select | NP_005413.2:p.Cys1000= |